A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740664



Internal ID9975007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11680686..11683227hg38UCSC Ensembl
OuterchrY:13801392..13803933hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg382542
hg192542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1333e201
Supporting Variantsessv6921252, essv6780621, essv6744663, essv6780632
SamplesSSM008, SSM017, SSM053
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2740664
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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